Overview

Also Known As:lens opacity 10

These mice carry a spontaneous mutation at the Gja8 locus characterized by microphthalmia.

Donating Investigator

Dr. Bo Chang, JAX

Genetic overview

Genetic Background	Generation

Gja8^Lop10

Allele Type	Gene Symbol	Gene Name
Spontaneous	Gja8	gap junction protein, alpha 8

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Research Applications

Developmental Biology Research
Sensorineural Research

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Detailed Description

The lens opacity 10 mutation in Gja8 is semidominant. Homozygotes are microphthalmic with foamy cataract of the entire lens apparent when the eyes open at 12 days of age and increasing in opaqueness with age. Bladder cells are found adjacent to the anterior and posterior subcapsular regions of the lens before birth, the lens nucleus begins to liquefy by 4 days of age and ruptures posteriorly, then the lens capsule thickens. Gja8^Lop10 Heterozygotes are not microphthalmic and the phenotype associated with the mutation varies according to the genetic background. A nuclear haze or snowflake nuclear opacity is found in F1 heterozygotes of some backgrounds while a more severe dense nuclear opacity is evident by 4 weeks of age in F1 heterozygotes of other backgrounds including AKR/J and BALB/cJ. Mice homozygous for the Gja8^tm1Paul targeted mutation, a recessive mutation in which the entire coding region is removed, do not display posterior lens rupture. Additionally, there is a decrease in phosphorylated Gja3 in lens extracts from Gja8^Lop10 homozygotes and mice doubly homozygous for Gja8^Lop10 and a targeted mutation disrupting Gja3 have a less severe phenotype than that of Gja8^Lop10 homozygotes. (Runge et al., 1992; Chang et al., 2002.)

Development

The Gja8^Lop10 mutation arose spontaneously in the offspring of a BALB/cJ x AKR/J cross at The Jackson Laboratory. It was backcrossed three times to BALB/cJ then maintained by sibling mating for many years before cryopreservation of sperm.

Control Suggestions

Approximate Controls

000651 BALB/cJ

Additional Information

Considerations for Choosing Controls

Genetics

Gja8^Lop10

Allele Symbol: Gja8^Lop10

Allele Name	lens opacity 10
Allele Type	Spontaneous
Allele Synonym(s)	G22R; Lop10
Gene Symbol and Name	Gja8, gap junction protein, alpha 8
Gene Synonym(s)
Strain of Origin	BALB/cJ x AKR/J
Chromosome	3
General Note	In homozygous mutant mice, eyes are microphthalmic, with a dense white cataract present when eyelids opened at the age of 12 days. Histologic changes could be traced back to the 18th day of gestation. Liquefaction of lens contents had begun by 4 days of age, with posterior herniation by 11 days old. Expression in heterozygotes varied with age and with strain of origin (J:4160).
Molecular Note	The mutation in the lens opacity 10 mouse was identifed as a G-to-C missense mutation (C-to-G on forward strand) in the gene, which causes a glycine to arginine substitution at codon 22 of the encoded protein (p.G22R).

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

This mouse can be used to support research in many areas including:

Genotype: Gja8^Lop10 related

Developmental Biology Research
- Eye Defects
Sensorineural Research
- Eye Defects
- Cataracts
  - lens extrusion

Mammalian Phenotype Terms by Genotype

The following phenotype relates to a compound genotype created using this strain

Genotype: Gja8^Lop10/Gja8^Lop10
C;AK-Gja8/J

vision/eye phenotype

abnormal lens development
- at 3 weeks of age the lens has only only small gap junction plaques

abnormal lens fiber morphology
- although the secondary fibers of the bow region defferentiate normally, the fibers in the deeper regions are severely disrupted by one day of age

cataract
- at 1 day of age small bladder cells are found axially adjacent to the posterior lens capsule, which is of normal thickness, by 2 days of age bladder cells are found adjacent to both the anterior and posterior axial subcapsular regions, and by 4 days of age the lens nucleus begins to liquify and the lens contents begin to displace posteriorly; by 11 days of age the lens capsule has a marked thickening with the lens contents herniated posteriorly, and when the eyes open at 12 days of age lens opacity is evident
- dent
- e the lens nucleus begins to liquify and the lens contents begin to displace posteriorly; by 11 days of age the lens capsule has a marked thickening with the lens contents herniated posteriorly, and when the eyes open at 12 days of age lens opacity is evi

microphthalmia

ruptured lens capsule

Genotype: Gja8^Lop10/Gja8⁺
C;AK-Gja8/J

vision/eye phenotype

nuclear cataracts
- Background Sensitivity - fetal nuclear cataract with background dependent variability in expressivity, with dense nuclear opacity at 4 weeks of age on the BALB/cJ and AKR/J mixed background; a less severe phenotype of snowflake opacity with a later onset of 3 months of age is found when outcrossed to some other genetic backgrounds, particularly those of the C57BL group
- Background Sensitivity - nd when outcrossed to some other genetic backgrounds, particularly those of the C57BL group

References

Additional References

Chang B; Wang X; Hawes NL; Ojakian R; Davisson MT; Lo WK; Gong X. 2002. A Gja8 (Cx50) point mutation causes an alteration of alpha3 connexin (Cx46) in semi-dominant cataracts of Lop10 mice. Hum Mol Genet 11(5):507-13PubMed: 11875045 MGI: J:75387

Additional - Gja8^Lop10 related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Genotyping resources and troubleshooting
Appearance
- albino, cataract, small eye
  Related Genotype: Tyrp1^b/Tyrp1^b Tyr^c/ Tyr^c Gja8^Lop10/Gja8^Lop10
Citation
When using the lens opacity 10 mouse strain in a publication, please cite the originating article(s) and include JAX stock #001490 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Pricing & Availability

Cryo Recovery

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
	Heterozygous for Gja8<Lop 10>

Related Products and Services

Frozen Mouse Embryo	C;AK-Gja8<Lop10>/J	$2595.00
Frozen Mouse Embryo	C;AK-Gja8<Lop10>/J	$2595.00
Frozen Mouse Embryo	C;AK-Gja8<Lop10>/J	$3373.50
Frozen Mouse Embryo	C;AK-Gja8<Lop10>/J	$3373.50

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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.

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Licensing Information

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Also Known As:lens opacity 10

Donating Investigator

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Control Suggestions

Approximate Controls

Additional Information

Gja8Lop10

Allele Symbol: Gja8Lop10

Disease Terms

Research Areas By Phenotype

This mouse can be used to support research in many areas including:

Genotype: Gja8Lop10 related

Mammalian Phenotype Terms by Genotype

Genotype: Gja8Lop10/Gja8Lop10C;AK-Gja8/J

vision/eye phenotype

Genotype: Gja8Lop10/Gja8+C;AK-Gja8/J

vision/eye phenotype

References

Additional References

Additional - Gja8Lop10 related

Genotyping Protocols

Appearance

Citation

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Live Mouse

Cryorecovery - Pricing

Related Products and Services

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms Of Use

Licensing Information

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Gja8^Lop10

Allele Symbol: Gja8^Lop10

Genotype: Gja8^Lop10 related

Genotype: Gja8^Lop10/Gja8^Lop10
C;AK-Gja8/J

Genotype: Gja8^Lop10/Gja8⁺
C;AK-Gja8/J

Additional - Gja8^Lop10 related